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Archive - Nov 15, 2018

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Non-Coding Rare Genetic Variant (rs17114036) Could Improve Key Vascular Functions and May Reduce Risk of Risk of Coronary Artery Disease (CAD)

Atherosclerotic disease, the slow and silent hardening and narrowing of the arteries, is a leading cause of mortality worldwide. It is responsible for more than 15 million deaths each year, including an estimated 610,000 people in the United States. In an pen-access article published online on November 14, 2018 in PNAS, a team of physicians, geneticists, and biologists describes a previously unknown genetic factor that can either raise or reduce the risk of coronary artery disease or ischemic stroke. The article is titled “Genetic Variant at Coronary Artery Disease & Ischemic Stroke Locus 1p32.2 Regulates Endothelial Responses to Hemodynamics.” The researchers found that a common non-coding sequence of DNA -- known as rs17114036 and located on chromosome 1p32.2 -- helps regulate gene expression in the cells that line the interior surface of blood vessels, the vascular endothelium. This sequence of DNA contains a single nucleotide polymorphism (SNP). SNPs are common. There is, on average, 1 SNP for every 300 nucleotides scattered throughout a person's DNA. SNPs tend to reside between genes. Most have no known effect, but some play a distinct role. The research team found that rs17114036 plays a significant role in endothelial function and is relevant to human disease incidence. "This particular polymorphism is a previously unappreciated layer of regulatory control," said Yun Fang, PhD, an Assistant Professor of Medicine at the University of Chicago and senior author of the study. The endothelium helps smooth and speed the flow of blood through complex vascular intersections, places where branches or bifurcations disrupt the flow from an artery to two smaller vessels. When the flow is smooth and in one direction, the endothelium is quiescent.

Charles Halasz, MD, Yale College 1973, Wins Award for 20 Years of Distinguished Community Service

In this grim honorless age of evil greedy Trump, there is yet some great good in the world. Yale College (1973) and University of Connecticut School of Medicine (1977) graduate Charles Halasz, MD, has just been awarded Americares Free Clinics' prestigious 2018 Dr. Patch Adams Award for over 20 years of distinguished community service to low-income patients with no insurance or not eligible for government support. Dr. Halasz is a Norwalk, Connecticut dermatologist, who is also board-certified in internal medicine. Dr. Halasz is also Assistant Clinical Professor of Dermatology at Columbia Univristy’s College of Physicians & Surgeons in New York City. The Dr. Patch Adams award was presented as part of the Fairfield County Medical Association (FCMA) Physician Extraordinaire Award Ceremony October 25. Dr. Halasz’s low-income patients, over 200 each year for over 20 years, are typically refugees from foreign countries and continents such as Nepal, the former Yugoslavia, Central America, and South America. When Americares opened its first free clinic, in Norwalk, CT, two decades ago, Dr. Halasz was one of the clinic's first volunteers. He provided his expert medical services for no charge in order to help people in need. And he has done so now for over 20 years. Below are comments given at the ceremony by the award presenters and by Charley himself. Suffice it to say that this is a great and well-deserved award that recognizes Dr. Halasz’s extraordinary compassion and nobility of soul. One of the presenters said the following: “Patch Adams said, ‘The unencumbered practice of care is an ecstatic experience worth paying to do.’ Dr. Patch Adams is a real physician. When most people hear the name Patch Adams, they think of Robin Williams (star of the Patch Adams movie).